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Aliases for HPSE2 Gene

Aliases for HPSE2 Gene

  • Heparanase 2 (Inactive) 2 3 5
  • HPA2 3 4
  • Heparanase-Like Protein 3
  • Inactive Heparanase-2 3
  • Urofacial Syndrome 2
  • Heparanase 2 2
  • Heparanase 3 3
  • HPR2 3
  • UFS1 3
  • UFS 3

External Ids for HPSE2 Gene

Previous HGNC Symbols for HPSE2 Gene

  • UFS

Previous GeneCards Identifiers for HPSE2 Gene

  • GC10M099112
  • GC10M099452
  • GC10M100350
  • GC10M099883
  • GC10M100208
  • GC10M093841

Summaries for HPSE2 Gene

Entrez Gene Summary for HPSE2 Gene

  • This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for HPSE2 Gene

HPSE2 (Heparanase 2 (Inactive)) is a Protein Coding gene. Diseases associated with HPSE2 include Urofacial Syndrome 1 and Hpse2-Related Urofacial Syndrome. Among its related pathways are Glycosaminoglycan degradation and Glycosaminoglycan metabolism. GO annotations related to this gene include heparan sulfate proteoglycan binding and heparanase activity. An important paralog of this gene is HPSE.

UniProtKB/Swiss-Prot for HPSE2 Gene

  • Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro).

Gene Wiki entry for HPSE2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPSE2 Gene

Genomics for HPSE2 Gene

Regulatory Elements for HPSE2 Gene

Enhancers for HPSE2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G098919 1 ENCODE 32 +315.0 315017 2.0 ATF1 ARID4B SIN3A DMAP1 ZNF48 SLC30A9 GLIS2 ZNF766 ZNF143 DEK HPSE2 CNNM1 MIR6507 GC10P098899
GH10G099328 1.2 Ensembl ENCODE 16.9 -93.9 -93880 1.8 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF121 GLIS2 ZNF263 HPSE2 PIR44588 GOT1
GH10G098955 0.6 ENCODE 32 +278.8 278805 2.2 ESRRA SUZ12 CBX2 KDM1A REST EZH2 HPSE2 GC10M098967 MIR6507
GH10G098910 1 ENCODE 11.4 +325.6 325637 0.2 PKNOX1 ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 FOS JUNB NCOA1 HPSE2 GC10P098899 MIR6507
GH10G099231 1.1 Ensembl ENCODE 8.5 +2.3 2296 3.2 HDGF SIN3A RAD21 EGR1 CBX5 ETV6 CREM ZNF654 CBFB REST HPSE2 CNNM1 RPL7P36
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HPSE2 on UCSC Golden Path with GeneCards custom track

Genomic Location for HPSE2 Gene

Chromosome:
10
Start:
98,457,077 bp from pter
End:
99,235,875 bp from pter
Size:
778,799 bases
Orientation:
Minus strand

Genomic View for HPSE2 Gene

Genes around HPSE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HPSE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HPSE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HPSE2 Gene

Proteins for HPSE2 Gene

  • Protein details for HPSE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWQ2-HPSE2_HUMAN
    Recommended name:
    Inactive heparanase-2
    Protein Accession:
    Q8WWQ2
    Secondary Accessions:
    • Q5VUH4
    • Q5VUH5
    • Q5VUH6
    • Q8WWQ1
    • Q9HB37
    • Q9HB38
    • Q9HB39

    Protein attributes for HPSE2 Gene

    Size:
    592 amino acids
    Molecular mass:
    66596 Da
    Quaternary structure:
    • Interacts with HPSE. Interacts with SDC1 (via glycan chains).

    Alternative splice isoforms for HPSE2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HPSE2 Gene

Post-translational modifications for HPSE2 Gene

  • Glycosylation at posLast=254254 and isoforms=2, 3, 4392
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HPSE2 Gene

Domains & Families for HPSE2 Gene

Protein Domains for HPSE2 Gene

Suggested Antigen Peptide Sequences for HPSE2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WWQ2

UniProtKB/Swiss-Prot:

HPSE2_HUMAN :
  • Belongs to the glycosyl hydrolase 79 family.
Family:
  • Belongs to the glycosyl hydrolase 79 family.
genes like me logo Genes that share domains with HPSE2: view

No data available for Gene Families for HPSE2 Gene

Function for HPSE2 Gene

Molecular function for HPSE2 Gene

UniProtKB/Swiss-Prot Function:
Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro).

Gene Ontology (GO) - Molecular Function for HPSE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0030305 heparanase activity TAS 11027606
GO:0043395 heparan sulfate proteoglycan binding IDA 20576607
genes like me logo Genes that share ontologies with HPSE2: view
genes like me logo Genes that share phenotypes with HPSE2: view

Human Phenotype Ontology for HPSE2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HPSE2 Gene

Localization for HPSE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HPSE2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HPSE2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for HPSE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IDA,IEA 20576607
GO:0005622 intracellular TAS 11027606
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with HPSE2: view

Pathways & Interactions for HPSE2 Gene

genes like me logo Genes that share pathways with HPSE2: view

Interacting Proteins for HPSE2 Gene

Gene Ontology (GO) - Biological Process for HPSE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0008150 biological_process ND --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with HPSE2: view

No data available for SIGNOR curated interactions for HPSE2 Gene

Drugs & Compounds for HPSE2 Gene

(1) Drugs for HPSE2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
genes like me logo Genes that share compounds with HPSE2: view

Transcripts for HPSE2 Gene

Unigene Clusters for HPSE2 Gene

Heparanase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HPSE2 Gene

No ASD Table

Relevant External Links for HPSE2 Gene

GeneLoc Exon Structure for
HPSE2
ECgene alternative splicing isoforms for
HPSE2

Expression for HPSE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HPSE2 Gene

mRNA differential expression in normal tissues according to GTEx for HPSE2 Gene

This gene is overexpressed in Esophagus - Muscularis (x6.9) and Esophagus - Gastroesophageal Junction (x5.7).

Protein differential expression in normal tissues from HIPED for HPSE2 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HPSE2 Gene



Protein tissue co-expression partners for HPSE2 Gene

NURSA nuclear receptor signaling pathways regulating expression of HPSE2 Gene:

HPSE2

SOURCE GeneReport for Unigene cluster for HPSE2 Gene:

Hs.500750

mRNA Expression by UniProt/SwissProt for HPSE2 Gene:

Q8WWQ2-HPSE2_HUMAN
Tissue specificity: Widely expressed, with the highest expression in brain, mammary gland, prostate, small intestine, testis and uterus. In the central nervous system, expressed in the spinal chord, caudate nucleus, thalamus, substantia nigra, medulla oblongata, putamen and pons. In the urinary bladder, expressed in longitudinal and circular layers of detrusor muscle. Found both in normal and cancer tissues.

Evidence on tissue expression from TISSUES for HPSE2 Gene

  • Heart(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HPSE2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • cranial nerve
  • face
  • head
  • skull
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with HPSE2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HPSE2 Gene

Orthologs for HPSE2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HPSE2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HPSE2 34 35
  • 99.72 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 98 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HPSE2 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HPSE2 34
  • 96.17 (n)
dog
(Canis familiaris)
Mammalia HPSE2 34 35
  • 95.33 (n)
mouse
(Mus musculus)
Mammalia Hpse2 34 16 35
  • 93.19 (n)
rat
(Rattus norvegicus)
Mammalia Hpse2 34
  • 89.08 (n)
chicken
(Gallus gallus)
Aves HPSE2 34 35
  • 80.47 (n)
lizard
(Anolis carolinensis)
Reptilia HPSE2 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hpse2 34
  • 75.29 (n)
zebrafish
(Danio rerio)
Actinopterygii hpse2 34 35
  • 69.96 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
Species where no ortholog for HPSE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HPSE2 Gene

ENSEMBL:
Gene Tree for HPSE2 (if available)
TreeFam:
Gene Tree for HPSE2 (if available)

Paralogs for HPSE2 Gene

Paralogs for HPSE2 Gene

(1) SIMAP similar genes for HPSE2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HPSE2: view

Variants for HPSE2 Gene

Sequence variations from dbSNP and Humsavar for HPSE2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs267606864 Pathogenic 98,490,103(-) CTGGC(C/G/T)GAGTG nc-transcript-variant, reference, missense, stop-gained
rs267606865 Pathogenic 99,144,391(-) TTGTT(C/T)GAAGT intron-variant, nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs267606866 Pathogenic 98,482,733(-) TGCAT(C/T)GATCA intron-variant, nc-transcript-variant, reference, stop-gained
rs397515338 Pathogenic 98,490,051(-) ACCAC(-/AA)GTAAG nc-transcript-variant, reference, frameshift-variant
rs397515452 Pathogenic 98,459,725(-) ACTGA(A/T)TGGCC nc-transcript-variant, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HPSE2 Gene

Variant ID Type Subtype PubMed ID
dgv1370n54 CNV loss 21841781
dgv1371n54 CNV loss 21841781
dgv1372n54 CNV loss 21841781
dgv165e199 CNV deletion 23128226
dgv505n106 CNV deletion 24896259
dgv8n50 CNV loss 21212237
esv1004375 CNV deletion 20482838
esv1474285 CNV insertion 17803354
esv23306 CNV loss 19812545
esv2448524 OTHER inversion 19546169
esv2482496 CNV deletion 19546169
esv25039 CNV loss 19812545
esv2522473 CNV loss 19546169
esv2665040 CNV deletion 23128226
esv26720 CNV loss 19812545
esv2674577 CNV deletion 23128226
esv2740017 CNV deletion 23290073
esv2740029 CNV deletion 23290073
esv2740040 CNV deletion 23290073
esv32597 CNV gain+loss 17666407
esv3431730 CNV insertion 20981092
esv3546737 CNV deletion 23714750
esv3624337 CNV loss 21293372
esv3624339 CNV loss 21293372
esv3624340 CNV loss 21293372
esv3624342 CNV loss 21293372
esv3624343 CNV loss 21293372
esv3624344 CNV loss 21293372
esv3624346 CNV loss 21293372
nsv1038634 CNV gain 25217958
nsv1045593 CNV gain 25217958
nsv1053992 CNV gain 25217958
nsv1070884 CNV deletion 25765185
nsv1075421 CNV duplication 25765185
nsv1076944 CNV deletion 25765185
nsv1130907 CNV deletion 24896259
nsv1137950 CNV deletion 24896259
nsv1137951 CNV deletion 24896259
nsv1145477 CNV deletion 24896259
nsv1152639 CNV deletion 26484159
nsv1159760 CNV duplication 26073780
nsv436692 OTHER inversion 17901297
nsv436820 CNV insertion 17901297
nsv478233 CNV novel sequence insertion 20440878
nsv498739 CNV loss 21111241
nsv507573 OTHER sequence alteration 20534489
nsv508602 CNV deletion 20534489
nsv513014 CNV insertion 21212237
nsv514537 CNV loss 21397061
nsv517710 CNV gain+loss 19592680
nsv518822 CNV gain 19592680
nsv520353 CNV gain 19592680
nsv521748 CNV gain 19592680
nsv552030 CNV loss 21841781
nsv552035 CNV loss 21841781
nsv552042 CNV loss 21841781
nsv552043 CNV loss 21841781
nsv552044 CNV loss 21841781
nsv7209 OTHER inversion 18451855
nsv7511 CNV deletion 18451855
nsv7513 CNV deletion 18451855
nsv7514 CNV deletion 18451855
nsv825536 CNV loss 20364138
nsv825537 CNV loss 20364138
nsv825538 CNV loss 20364138
nsv831955 CNV gain 17160897
nsv831956 CNV loss 17160897
nsv831957 CNV gain 17160897
nsv948160 CNV duplication 23825009
nsv948161 CNV duplication 23825009
nsv956971 CNV deletion 24416366

Variation tolerance for HPSE2 Gene

Residual Variation Intolerance Score: 41.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HPSE2 Gene

Human Gene Mutation Database (HGMD)
HPSE2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HPSE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPSE2 Gene

Disorders for HPSE2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for HPSE2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
urofacial syndrome 1
  • urofacial syndrome
hpse2-related urofacial syndrome
  • urofacial syndrome 1
neurogenic bladder
  • neurogenic dysfunction of the urinary bladder
reproductive organ benign neoplasm
uterine benign neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search HPSE2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HPSE2_HUMAN
  • Urofacial syndrome 1 (UFS1) [MIM:236730]: A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. {ECO:0000269 PubMed:20560209, ECO:0000269 PubMed:20560210}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HPSE2

Genetic Association Database (GAD)
HPSE2
Human Genome Epidemiology (HuGE) Navigator
HPSE2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HPSE2
genes like me logo Genes that share disorders with HPSE2: view

No data available for Genatlas for HPSE2 Gene

Publications for HPSE2 Gene

  1. Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member. (PMID: 11027606) McKenzie E. … Page M. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 22 64
  2. Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity. (PMID: 20576607) Levy-Adam F. … Vlodavsky I. (J. Biol. Chem. 2010) 2 3 4 64
  3. Mutations in HPSE2 cause urofacial syndrome. (PMID: 20560210) Daly S.B. … Newman W.G. (Am. J. Hum. Genet. 2010) 2 3 4 64
  4. A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. (PMID: 21980299) Bradfield J.P. … Hakonarson H. (PLoS Genet. 2011) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for HPSE2 Gene

Sources for HPSE2 Gene

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